Penny lives with her parents, Carrie and Adam, sister Ruby and brother Teddy. She had her first seizure, which lasted for 13 minutes, at 6 months old.
In this short film, Carrie and Adam share more about coming to terms with Dravet Syndrome.
Penelope was born a happy, healthy baby. When she had her first seizure at six months old, at first sight it wasn’t obvious - I’d never seen a seizure before. We called an ambulance and were taken to Sheffield Children’s Hospital. They told us that Penny had had a febrile seizure and had tonsilitis. A few days later, we were back to the hospital as Penny was having focal seizures in clusters.
When Penny was 11 months old, she suffered a particularly tough seizure. She was intubated and placed in intensive care for the first time (unfortunately not the last). At this point the consultant agreed to a genetic test for the SCN1A gene. It was 9 months later when the results came back positive - Penny has a SCN1A mutation.
The number of big tonic clonic seizures have changed as she’s got older. She still has lots of small myoclonic seizures – around 30-40 per day, an improvement from up to 100 a day. They cause her to fall over or drop whatever she is doing.
She used to be blue lighted to hospital each time she had a large tonic clonic seizure, but now we deal with them at home mostly. We felt sort of lost and so frightened every time the seizures happened in the early days, but we’ve become much more confident in dealing with them.
Penny has been on Fenfluramine for about 2 years, along with 3 other drugs. She’s not part of the clinical trial, she has compassionate access. We’ve definitely seen an improvement; it has had an effect on the big tonic clonic seizures. As with all medicines for Dravet Syndrome, it’s not a miracle drug, but at the same time any improvement on seizures makes a big difference to Penny and us as a family.
One of the problems we constantly encounter is lack of knowledge of Dravet Syndrome, for example in A&E and among paramedics. In an emergency, you call for an ambulance and explain that she has Dravet Syndrome and then you have to explain more about what it is. We’ve been in the situation where Penny is being blue lighted to hospital and the paramedics have literally been googling it in the ambulance on the way to the hospital.
Another challenge has been balancing time as a family. We self-referred to social services to get direct payment. It’s meant that we now get five hours a week of care for Penny, so we can spend that time with our other two children, so that we can do things with them that we can’t do when Penny is there. It’s made a massive difference in terms of getting a more balanced family life. We still might get a call saying she has had a seizure, but we get some respite.
Support from DSUK
Although the diagnosis of Dravet Syndrome was difficult, it also made things a lot easier. Because Penny had an early diagnosis, it’s meant that we’ve been supported by DSUK from the start and that has made such a huge difference to us. The private online forum for parents/carers, for example, has been so useful. It’s so reassuring talking to other parents and sharing knowledge and understanding.
DSUK provided us with a grant from their Seizure Monitor Fund for a Pulse Oximeter, which monitors Penny’s heart rate and oxygen levels and alerts us to potential seizures.
We’ve attended the DSUK Conferences, which have left us feeling very positive - it became apparent that there are professionals fighting to get a better understanding of our child’s condition and to find ways to better manage it. There is activity happening behind the scenes all the time, and we would highly recommend attending a future conference, if you can get there.
We’ve had an amazing time at the Annual Family Weekend Away, meeting other families living with Dravet Syndrome. Sometimes, it can be quite an isolating condition and no matter how hard people try, they never fully understand what a Dravet family goes through on a daily, hourly and sometimes minute by minute basis. This is what makes the Family Weekend so special, there are lots of people there who are in the same situation as you and your family.
Our other children, Ruby and Teddy, were nominated by family members for a DSUK Sibling Award. The excitement for them was immense when they received something through the post with their names on. They are both such valuable members of the family, so this really gave them some great encouragement to keep up the good work.
An amazing little girl
As well as seizures, Dravet Syndrome affects Penny in lots of different ways. Her speech is massively affected. She isn’t non-verbal, but she has very limited speech and it’s quite repetitive. She uses actions and noises to help her communicate.
Her mobility is quite good. She can’t walk long distances though and the ten-minute walk to school is too far for her. Her coordination is also affected.
Penny is really happy in life and loves her siblings and her family. I don’t think that she knows that anything is any different for her. I wouldn’t change anything; I just want her to be the best she can be.
Our advice to any recently diagnosed family would be that it’s not all doom and gloom, once you get your head around it. It’s not what we would choose for our children, and you will have your good days and your bad, but they will amaze you every single day.